Incidental Mutation 'R4485:Tmem145'
| ID |
501800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem145
|
| Ensembl Gene |
ENSMUSG00000043843 |
| Gene Name |
transmembrane protein 145 |
| Synonyms |
B930076A02Rik |
| MMRRC Submission |
041741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4485 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25005531-25015620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25006587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 65
(E65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080288]
[ENSMUST00000108409]
[ENSMUST00000119703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080288
|
| SMART Domains |
Protein: ENSMUSP00000104047
Gene: ENSMUSG00000058741
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro-rich_19
|
1 |
366 |
3.3e-196 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108409
AA Change: E65G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: E65G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:GpcrRhopsn4
|
157 |
411 |
7.5e-81 |
PFAM |
|
low complexity region
|
486 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119703
AA Change: E65G
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: E65G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:GpcrRhopsn4
|
143 |
397 |
4.3e-81 |
PFAM |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140016
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
| Apol7b |
C |
A |
15: 77,307,866 (GRCm39) |
V210L |
probably benign |
Het |
| Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,426,306 (GRCm39) |
F214L |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
| Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
| Gm14226 |
G |
A |
2: 154,867,191 (GRCm39) |
V383I |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
| Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
| Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
| Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Pus7l |
G |
T |
15: 94,421,371 (GRCm39) |
H646Q |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
| Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,304 (GRCm39) |
M137K |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
| Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,542 (GRCm39) |
W206R |
possibly damaging |
Het |
|
| Other mutations in Tmem145 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Tmem145
|
APN |
7 |
25,014,155 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00958:Tmem145
|
APN |
7 |
25,006,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01347:Tmem145
|
APN |
7 |
25,014,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01936:Tmem145
|
APN |
7 |
25,010,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02526:Tmem145
|
APN |
7 |
25,007,657 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02686:Tmem145
|
APN |
7 |
25,014,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Tmem145
|
APN |
7 |
25,014,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Tmem145
|
UTSW |
7 |
25,007,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Tmem145
|
UTSW |
7 |
25,014,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0329:Tmem145
|
UTSW |
7 |
25,008,099 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Tmem145
|
UTSW |
7 |
25,010,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Tmem145
|
UTSW |
7 |
25,006,860 (GRCm39) |
splice site |
probably null |
|
|
R1681:Tmem145
|
UTSW |
7 |
25,014,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2352:Tmem145
|
UTSW |
7 |
25,005,598 (GRCm39) |
missense |
probably benign |
|
|
R3834:Tmem145
|
UTSW |
7 |
25,010,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Tmem145
|
UTSW |
7 |
25,008,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4414:Tmem145
|
UTSW |
7 |
25,006,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Tmem145
|
UTSW |
7 |
25,007,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Tmem145
|
UTSW |
7 |
25,008,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4999:Tmem145
|
UTSW |
7 |
25,008,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5772:Tmem145
|
UTSW |
7 |
25,015,039 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5821:Tmem145
|
UTSW |
7 |
25,014,946 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5909:Tmem145
|
UTSW |
7 |
25,007,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6021:Tmem145
|
UTSW |
7 |
25,008,270 (GRCm39) |
splice site |
probably null |
|
|
R6430:Tmem145
|
UTSW |
7 |
25,008,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6768:Tmem145
|
UTSW |
7 |
25,008,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Tmem145
|
UTSW |
7 |
25,010,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7428:Tmem145
|
UTSW |
7 |
25,006,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7536:Tmem145
|
UTSW |
7 |
25,007,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Tmem145
|
UTSW |
7 |
25,006,753 (GRCm39) |
nonsense |
probably null |
|
|
R7826:Tmem145
|
UTSW |
7 |
25,006,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Tmem145
|
UTSW |
7 |
25,006,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Tmem145
|
UTSW |
7 |
25,008,200 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9129:Tmem145
|
UTSW |
7 |
25,014,265 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9277:Tmem145
|
UTSW |
7 |
25,009,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9297:Tmem145
|
UTSW |
7 |
25,008,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmem145
|
UTSW |
7 |
25,009,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAGGTGACTTAGCTGC -3'
(R):5'- TCACCCTCTGAATGGCTGTG -3'
Sequencing Primer
(F):5'- TGTTTGGGAAGCTAAGTGGC -3'
(R):5'- TGCCTTGTACACCGCTGG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation